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  2. Congenital hypothyroidism
  3. SLC26A7
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Congenital hypothyroidism

Gene: SLC26A7

Green List (high evidence)
SLC26A7 (solute carrier family 26 member 7)
EnsemblGeneIds (GRCh38): ENSG00000147606
EnsemblGeneIds (GRCh37): ENSG00000147606
OMIM: 608479, Gene2Phenotype
SLC26A7 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 unrelated families reported.

Congenital hypothyroidism.
Created: 27 Mar 2023, 3:45 a.m. | Last Modified: 27 Mar 2023, 3:45 a.m.
Panel Version: 0.41

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital hypothyroidism, MONDO:0018612, SLC26A7-related

Publications

Created: 27 Mar 2023, 3:45 a.m.
Last Modified: 27 Mar 2023, 3:45 a.m.
Panel version: 0.41

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Congenital hypothyroidism, MONDO:0018612, SLC26A7-related
OMIM
608479
Clinvar variants
Variants in SLC26A7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Mar 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc26a7 has been classified as Green List (High Evidence).

27 Mar 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC26A7 were changed from Primary congenital hypothyroidism (dyshormonogenesis) to Congenital hypothyroidism, MONDO:0018612, SLC26A7-related

27 Mar 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC26A7 were set to 30333321; 29546359

3 Feb 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC26A7 was added gene: SLC26A7 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: SLC26A7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC26A7 were set to 30333321; 29546359 Phenotypes for gene: SLC26A7 were set to Primary congenital hypothyroidism (dyshormonogenesis)